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15q13.3 Recurrent Deletion.
van Bon BWM, Mefford HC, de Vries BBA, Schaaf CP. van Bon BWM, et al. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21290787 Free Books & Documents. Review.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Unda BK, Chalil L, Yoon S, Kilpatrick S, Irwin C, Xing S, Murtaza N, Cheng A, Brown C, Afonso A, McCready E, Ronen GM, Howe J, Caye-Eude A, Verloes A, Doble BW, Faivre L, Vitobello A, Scherer SW, Lu Y, Penzes P, Singh KK. Unda BK, et al. Mol Psychiatry. 2023 Apr;28(4):1747-1769. doi: 10.1038/s41380-022-01937-5. Epub 2023 Jan 6. Mol Psychiatry. 2023. PMID: 36604605 Free PMC article.
The interactions between OTUD7A and Ankyrin-G (Ank3) and Ankyrin-B (Ank2) were disrupted by an epilepsy-associated OTUD7A L233F variant. ...Importantly, restoring OTUD7A or Ankyrin-G expression in 15q13.3 microdeletion neurons led to a reversal of abnormaliti …
The interactions between OTUD7A and Ankyrin-G (Ank3) and Ankyrin-B (Ank2) were disrupted by an epilepsy-associated OTUD7A L233 …
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
Kozlova A, Zhang S, Kotlar AV, Jamison B, Zhang H, Shi S, Forrest MP, McDaid J, Cutler DJ, Epstein MP, Zwick ME, Pang ZP, Sanders AR, Warren ST, Gejman PV, Mulle JG, Duan J. Kozlova A, et al. Am J Hum Genet. 2022 Aug 4;109(8):1500-1519. doi: 10.1016/j.ajhg.2022.07.001. Am J Hum Genet. 2022. PMID: 35931052 Free PMC article.
To tie OTUD7A LoF with any SZ-relevant cellular phenotypes, we modeled the OTUD7A LoF mutation, rs757148409, in human induced pluripotent stem cell (hiPSC)-derived induced excitatory neurons (iNs) by CRISPR-Cas9 engineering. The mutant iNs showed a 50% decrease in …
To tie OTUD7A LoF with any SZ-relevant cellular phenotypes, we modeled the OTUD7A LoF mutation, rs757148409, in human induced …
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP. Yin J, et al. Am J Hum Genet. 2018 Feb 1;102(2):296-308. doi: 10.1016/j.ajhg.2018.01.005. Am J Hum Genet. 2018. PMID: 29395075 Free PMC article.
We show that OTUD7A localizes to dendritic spines and that Otud7a-null mice have decreased dendritic spine density compared to their wild-type littermates. Furthermore, frequency of miniature excitatory postsynaptic currents (mEPSCs) is reduced in the frontal cortex …
We show that OTUD7A localizes to dendritic spines and that Otud7a-null mice have decreased dendritic spine density compared to …
SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth.
Su S, Chen J, Jiang Y, Wang Y, Vital T, Zhang J, Laggner C, Nguyen KT, Zhu Z, Prevatte AW, Barker NK, Herring LE, Davis IJ, Liu P. Su S, et al. Adv Sci (Weinh). 2021 Jul;8(14):e2004846. doi: 10.1002/advs.202004846. Epub 2021 Jun 1. Adv Sci (Weinh). 2021. PMID: 34060252 Free PMC article.
Speckle-type POZ protein (SPOP) and OTU domain-containing protein 7A (OTUD7A) are identified as the bona fide E3 ligase and deubiquitinase, respectively, that control EWS-FLI1 protein turnover in Ewing sarcoma. Casein kinase 1-mediated phosphorylation of the VTSSS degron i …
Speckle-type POZ protein (SPOP) and OTU domain-containing protein 7A (OTUD7A) are identified as the bona fide E3 ligase and deubiquit …
CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p.
Liu W, Lei L, Liu X, Ye S. Liu W, et al. Genes Genomics. 2021 Jun;43(6):653-667. doi: 10.1007/s13258-021-01094-z. Epub 2021 Apr 8. Genes Genomics. 2021. PMID: 33830472
BACKGROUND: A growing number of studies have shown that circular RNA (circRNA) is an important regulator molecule in cancer progression, but it has been poorly studied in diffuse large b-cell lymphoma (DLBCL). OBJECTIVE: This study aimed to explore the role of circ_OTUD7A …
BACKGROUND: A growing number of studies have shown that circular RNA (circRNA) is an important regulator molecule in cancer progression, but …
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK. Uddin M, et al. Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006. Am J Hum Genet. 2018. PMID: 29395074 Free PMC article.
Analysis of large-scale genomic, transcriptomic, and proteomic data identified OTUD7A as a critical gene for brain function. OTUD7A was found to localize to dendritic and spine compartments in cortical neurons, and its reduced levels in Df(h15q13)/+ cortical neurons …
Analysis of large-scale genomic, transcriptomic, and proteomic data identified OTUD7A as a critical gene for brain function. OTUD7 …
Epigenetic age estimation in saliva and in buccal cells.
Ambroa-Conde A, Girón-Santamaría L, Mosquera-Miguel A, Phillips C, Casares de Cal MA, Gómez-Tato A, Álvarez-Dios J, de la Puente M, Ruiz-Ramírez J, Lareu MV, Freire-Aradas A. Ambroa-Conde A, et al. Forensic Sci Int Genet. 2022 Nov;61:102770. doi: 10.1016/j.fsigen.2022.102770. Epub 2022 Aug 27. Forensic Sci Int Genet. 2022. PMID: 36057238 Free article.
Despite these high success rates, a combined age prediction model was developed covering both saliva and buccal cells, using seven CpG sites (cg10501210, LHFPL4, ELOVL2, PDE4C, HOXC4, OTUD7A and EDARADD) based on multivariate quantile regression giving a median absolute er …
Despite these high success rates, a combined age prediction model was developed covering both saliva and buccal cells, using seven CpG sites …
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S, Kosaki K, Doi M. Suzuki H, et al. Am J Med Genet A. 2021 Apr;185(4):1182-1186. doi: 10.1002/ajmg.a.62054. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381903
Here, we report a patient with profound hypotonia, severe intellectual disability, and seizures who had biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del, p....Our experimen …
Here, we report a patient with profound hypotonia, severe intellectual disability, and seizures who had biallelic loss-of-function variants …
29 results